Gene Gene information from NCBI Gene database.
Entrez ID 6228
Gene name Ribosomal protein S23
Gene symbol RPS23
Synonyms (NCBI Gene)
BTDDMABASMCINSPAMASS23uS12
Chromosome 5
Chromosome location 5q14.2
Summary Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1060505035 A>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT049851 hsa-miR-33a-5p CLASH 23622248
MIRT049724 hsa-miR-92a-3p CLASH 23622248
MIRT042095 hsa-miR-484 CLASH 23622248
MIRT035773 hsa-miR-1915-5p CLASH 23622248
MIRT437863 hsa-miR-542-3p U118 24762395
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation IDA 25957688
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22681889
GO:0003735 Function Structural constituent of ribosome HDA 15883184
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603683 10410 ENSG00000186468
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62266
Protein name Small ribosomal subunit protein uS12 (40S ribosomal protein S23)
Protein function Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:28257692). The small ribosomal subunit (SSU) binds messenger RNAs (mRNA
PDB 4CXG , 4CXH , 4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZON , 6ZP4 , 6ZUO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00164 Ribosom_S12_S23 29 142 Ribosomal protein S12/S23 Family
Sequence
Sequence length 143
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome
Coronavirus disease - COVID-19
  L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Brachycephaly, trichomegaly, and developmental delay Pathogenic rs1060505034, rs1060505035 RCV000477681
RCV000477697
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BINOCULAR VISION DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25107436
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 26982655 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 31652432
★☆☆☆☆
Found in Text Mining only
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY MacInnes syndrome GENOMICS_ENGLAND_DG 28257692
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY MacInnes syndrome UNIPROT_DG 28257692
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY MacInnes syndrome CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY MacInnes syndrome CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28714366 Associate
★☆☆☆☆
Found in Text Mining only